Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3081
Gene Symbol: HGD
HGD
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria 		1.000 CausalMutation CLINVAR Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria. 19862842

2009
Entrez Id: 3081
Gene Symbol: HGD
HGD
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria 		1.000 CausalMutation CLINVAR The results show complete cosegregation (Z = 6.32; theta = 0) between a C-->T transition at position 817 of the human HGO cDNA and AKU. 9674916

1998
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study. 23306324

2013
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR DGJ was capable of normalizing intracellular processing of mutant alpha-Gal A found in both classic (L166V) and variant (R301Q) Fabry disease patients. 17555407

2007
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation. 23109060

2013
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR Cardiovascular manifestations in Fabry disease: a clinical and echocardiographic study. 17452128

2007
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers. 12920095

2003
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR Energy utilization of induced pluripotent stem cell-derived cardiomyocyte in Fabry disease. 28082092

2017
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR Pharmacological chaperone therapy for Fabry disease. 22241068

2012
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? 25407461

2015
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR Diagnosing Fabry disease--delays and difficulties within discordant siblings. 23378663

2015
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR Fabry disease: 20 novel GLA mutations in 35 families. 11668641

2001
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR Reduction of podocyte globotriaosylceramide content in adult male patients with Fabry disease with amenable GLA mutations following 6 months of migalastat treatment. 28756410

2017
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR Prevalence and clinical features of Fabry disease in Japanese male patients with diagnosis of hypertrophic cardiomyopathy. 27554049

2017
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A). 19621417

2009
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease. 19287194

2009
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines. 19387866

2009
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A. 24386359

2013
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser. 2152885

1990
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease. 11531969

2001
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes. 15091117

2004
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR Functional analysis of variant lysosomal acid glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293 T). 21972175

2012
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis. 27083555

2016
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene. 8807334

1996
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G→A). 20821055

2010